Chromosomal region 11q13 has been identified as an area of the human genome that has been genetical linked to a variety of diseases including osteopetrosis (Heaney et al., Hum. Mol. Genet. 7(9) 1407–10 (1998), osteoarthritis (Chapman et al., Am. J. Genet 65:000—000, 1999), asthma (Laing et al., J. Med. Genet. 35(6) 463–7 (1998)), multiple myeloma (Fonseca et al., Br. J. Haematol. 101(2) 296–301 (1998)), plasma cell leukemia, (PCL) (Shimazaki et al., Int. J. Hematol. 66(1):111–5 (1997), breast cancer (Hui et al., Oncogene 15(13):1617–23 (1997)), head and neck squamous cell carcinoma (Wang et al., Anticancer Res. (2A):925–31 (1999)), and atopic dermatitis (Folster-Holst et al., Hum. Genet. 102(2):236–9 (1998)). In addition, this region has been linked to high bone mass (Johnson et al., Am. J. Hum. Genet. 60:1326–1332(1997)).
Despite the localization of many human diseases to region 11q13, the majority of genes responsible for these disorders have not yet been identified or characterized. There have been some indications of function for the 11q13 genes which have been identified. For example, it has been suggested that LRP5 is somehow linked to insulin dependent diabetes mellitus 4, (Nakagawa et al., Am. J. Hum. Genet. 63:547–556 (1998)). Further, MKS2 is involved in Meckel Syndrome (Roume et al., Am. J. Genet 63:1095–1101, (1998)); VMD2 gene is involved in Best's vitelliform macular dystrophy (Cooper et al., Genomics, 49(3):419–29 (1998); cyclin D1 gene is implicated in mantle cell lymphoma (Pott et al., Leukemia 12(10):1630–7 (1998)), and MENINI gene is involved in multiple endocrine neoplasia type 1 (Wang et al., Cancer Res., 58(19):4417–20(1998)). Thus, there is a great need for identification and characterization of other genes of the 11q13 region and their encoded proteins.